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01 604168 - CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Cataract 白内障 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Spinocerebellar Degenerations 脊髄小脳変性症 MeSH lifesciencedb.jp
Nervous System Diseases 神経系疾患 MeSH lifesciencedb.jp
Ataxia 運動失調症 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Facial Nerve Diseases 顔面神経疾患 MeSH lifesciencedb.jp
Rhabdomyolysis 横紋筋融解症 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Myoglobinuria ミオグロビン尿症 MeSH lifesciencedb.jp
Psychomotor Disorders 精神運動障害 MeSH lifesciencedb.jp
Neuromuscular Diseases 神経筋疾患 MeSH lifesciencedb.jp
Cerebellar Ataxia 運動失調症-小脳性 MeSH lifesciencedb.jp
Peripheral Nervous System Diseases 末梢神経系疾患 MeSH lifesciencedb.jp
Respiratory Tract Infections 気道感染 MeSH lifesciencedb.jp
Muscular Diseases 筋疾患 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Recurrence 再発 MeSH lifesciencedb.jp
Disease Progression 病勢悪化 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Phosphoprotein Phosphatases プロテインホスファターゼ MeSH lifesciencedb.jp
Guanine Nucleotide Exchange Factors グアニンヌクレオチド交換因子 MeSH lifesciencedb.jp
RNA Polymerase II DNA依存性RNAポリメラーゼ2 MeSH lifesciencedb.jp
Protein Phosphatase 1 - MeSH lifesciencedb.jp
Molecular Chaperones 分子シャペロン MeSH lifesciencedb.jp
Heat-Shock Proteins ストレス蛋白質 MeSH lifesciencedb.jp
Nuclear Proteins 核内蛋白質 MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
Chromosomes, Human, Pair 18 ヒト第18染色体 MeSH lifesciencedb.jp
Neural Conduction 神経興奮伝導 MeSH lifesciencedb.jp
Founder Effect 創始者効果 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Evoked Potentials, Auditory, Brain Stem 脳幹聴覚誘発電位 MeSH lifesciencedb.jp
Walking ウォーキング MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Psychomotor Performance 精神運動能力 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Conserved Sequence 保存配列 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Binding Sites 結合部位 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Linkage Disequilibrium 連鎖不平衡 MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Chromosomes, Human, Pair 18 ヒト第18染色体 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Sural Nerve 腓腹神経 MeSH lifesciencedb.jp
Nerve Fibers, Myelinated 有髄神経線維 MeSH lifesciencedb.jp
Myelin Sheath 髄鞘 MeSH lifesciencedb.jp
Endoplasmic Reticulum 小胞体 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Brain 脳 MeSH lifesciencedb.jp
Muscles 筋 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp


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